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Two new cases of pure 1q terminal deletion presenting with brain malformations.
Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N. Hiraki Y, et al. Among authors: yamasaki m. Am J Med Genet A. 2008 May 15;146A(10):1241-7. doi: 10.1002/ajmg.a.32275. Am J Med Genet A. 2008. PMID: 18384145
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.
Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y, Yamasaki M. Okamoto N, et al. Among authors: yamasaki m. J Hum Genet. 2004;49(6):334-337. doi: 10.1007/s10038-004-0153-4. Epub 2004 May 18. J Hum Genet. 2004. PMID: 15148591
Novel MCA/ID syndrome with ASH1L mutation.
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: yamasaki m. Am J Med Genet A. 2017 Jun;173(6):1644-1648. doi: 10.1002/ajmg.a.38193. Epub 2017 Apr 10. Am J Med Genet A. 2017. PMID: 28394464
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Hori I, et al. Among authors: yamasaki m. Am J Med Genet A. 2016 Jul;170(7):1863-7. doi: 10.1002/ajmg.a.37653. Epub 2016 Apr 13. Am J Med Genet A. 2016. PMID: 27075689
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D. Okamoto N, et al. Among authors: yamasaki m. Am J Med Genet A. 2017 Oct;173(10):2690-2696. doi: 10.1002/ajmg.a.38391. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777490
KIF1A mutation in a patient with progressive neurodegeneration.
Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: yamasaki m. J Hum Genet. 2014 Nov;59(11):639-41. doi: 10.1038/jhg.2014.80. Epub 2014 Sep 25. J Hum Genet. 2014. PMID: 25253658
2,312 results